Works matching DE "GONADAL dysgenesis"
Results: 534
Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype.
- Published in:
- Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00070-5
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- Publication type:
- Article
Profile of DHX37 gene defects in human genetic diseases: 46,XY disorders of sex development.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1507749
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- Publication type:
- Article
Causes of primary and secondary amenorrhoea.
- Published in:
- 2012
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- Publication type:
- Case Study
Perspectives in Pediatric Pathology, Chapter 7. Ovotesticular DSD (True Hermaphroditism).
- Published in:
- 2015
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- Publication type:
- Opinion
Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis.
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- Pediatric & Developmental Pathology, 2015, v. 18, n. 4, p. 259, doi. 10.2350/14-04-1471-PB.1
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- Publication type:
- Article
Gonadoblastoma in Patients with Ullrich-Turner Syndrome.
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- Pediatric & Developmental Pathology, 2015, v. 18, n. 2, p. 117, doi. 10.2350/14-08-1539-OA.1
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- Publication type:
- Article
Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis.
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- Pediatric & Developmental Pathology, 2011, v. 14, n. 6, p. 445, doi. 10.2350/11-01-0960-OA.1
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- Publication type:
- Article
Familial Hydrocephalus and Dysgenesis of the Corpus Callosum Associated with Xp22.33 Duplication and Stenosis of the Aqueduct of Sylvius with X-Linked Recessive Inheritance Pattern.
- Published in:
- 2019
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- Publication type:
- Case Study
A case of XY pure gonadal dysgenesis with 46,XYp-/47,XXYp- karyotype whose gonadoblastoma was removed laparoscopically.
- Published in:
- 2000
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- Publication type:
- journal article
DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.
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- Human Genetics, 2020, v. 139, n. 11, p. 1455, doi. 10.1007/s00439-020-02189-5
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- Publication type:
- Article
New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment.
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- Neurological Sciences, 2023, v. 44, n. 10, p. 3691, doi. 10.1007/s10072-023-06792-y
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- Publication type:
- Article
Ovarian Dysgenesis in an Alpaca with a Minute Chromosome 36.
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- Journal of Heredity, 2014, v. 105, n. 6, p. 870, doi. 10.1093/jhered/ess069
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- Publication type:
- Article
Cytogenetic abnormalities in essential thrombocythemia: Clinical and molecular correlates and prognostic relevance in 809 informative cases.
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- Blood Cancer Journal, 2022, v. 12, n. 3, p. 1, doi. 10.1038/s41408-022-00639-z
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- Publication type:
- Article
Hypogonadism in Male Patients with Pituitary Adenoma and Its Related Mechanism: A Review of Literature.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 6, p. 796, doi. 10.3390/brainsci12060796
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- Publication type:
- Article
OC10.01: Fetal MRI‐based network medicine: deciphering the phenome of callosal agenesis.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 25, doi. 10.1002/uog.27786
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- Publication type:
- Article
Prenatal ambiguous/atypical genitalia: why are we still missing it and how can we improve diagnosis?
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 63, n. 5, p. 581, doi. 10.1002/uog.27507
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- Publication type:
- Article
VP11.02: Ultrasound diagnosis of abnormal external genitalia of fetus.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 95, doi. 10.1002/uog.22483
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- Publication type:
- Article
EP16.28: Prenatal diagnosis of a Swyer syndrome as a result of gender discrepancy in NIPT and ultrasound.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 333, doi. 10.1002/uog.21439
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- Publication type:
- Article
Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2015, v. 46, n. 1, p. 60, doi. 10.1002/uog.14655
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- Publication type:
- Article
OP27.08: A rare case of 45,X/46, XY mixed gonadal dysgenesis presenting antenatally with ambiguous genitalia.
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- Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 129, doi. 10.1002/uog.13904
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- Publication type:
- Article
Combined Alport syndrome, Klinefelter syndrome and Fanconi syndrome in a Chinese boy.
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- Nephrology, 2023, v. 28, n. 5, p. 272, doi. 10.1111/nep.14152
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- Publication type:
- Article
Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome.
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- Andrologia, 2022, v. 54, n. 2, p. 1, doi. 10.1111/and.14292
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- Publication type:
- Article
A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.
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- Andrologia, 2021, v. 53, n. 5, p. 1, doi. 10.1111/and.14011
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- Publication type:
- Article
Sexual and developmental aspects of 49, XXXXY Syndrome: A case report.
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- Andrologia, 2020, v. 52, n. 10, p. 1, doi. 10.1111/and.13771
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- Publication type:
- Article
A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient.
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- Andrologia, 2019, v. 51, n. 9, p. N.PAG, doi. 10.1111/and.13377
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- Publication type:
- Article
Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46, XY patients.
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- Andrologia, 2016, v. 48, n. 5, p. 509, doi. 10.1111/and.12470
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- Publication type:
- Article
Causes of amenorrhea in Korea: Experience of a single large center.
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- Clinical & Experimental Reproductive Medicine, 2014, v. 41, n. 1, p. 29, doi. 10.5653/cerm.2014.41.1.29
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- Publication type:
- Article
Opioid-induced hypogonadism in opioid use disorder, its role in negative reinforcement, and implications for treatment and retention.
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- American Journal of Drug & Alcohol Abuse, 2024, v. 50, n. 2, p. 132, doi. 10.1080/00952990.2023.2292012
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- Publication type:
- Article
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1171822
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- Publication type:
- Article
Growth in girls with Turner syndrome.
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- Frontiers in Endocrinology, 2023, v. 13, p. 01, doi. 10.3389/fendo.2022.1068128
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- Publication type:
- Article
Categorization of differences of sex development among Egyptian children and the role of antimullerian hormone and inhibin B.
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- Frontiers in Endocrinology, 2023, v. 13, p. 1, doi. 10.3389/fendo.2022.1072399
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- Publication type:
- Article
Ovarian gonadoblastoma with dysgerminoma in a girl with 46, XX karyotype 17a-hydroxylase/ 17, 20-lyase deficiency: A case report and literature review.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.989695
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- Publication type:
- Article
Implicating factors in the increase in cases of central precocious puberty (CPP) during the COVID-19 pandemic: Experience of a tertiary centre of pediatric endocrinology and review of the literature.
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- Frontiers in Endocrinology, 2022, v. 13, p. 01, doi. 10.3389/fendo.2022.1032914
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- Publication type:
- Article
An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.989447
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- Publication type:
- Article
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.957969
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- Publication type:
- Article
Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.897069
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- Publication type:
- Article
A RARE CASE OF MIXED GONADAL DYSGENESIS WITH MALIGNANT MIXED GERM CELL TUMOR.
- Published in:
- 2015
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- Publication type:
- Case Study
Reproductive impairment and intersexuality in Gomphina veneriformis (Bivalvia: Veneridae) by the tributyltin compound.
- Published in:
- Animal Cells & Systems, 2015, v. 19, n. 1, p. 61, doi. 10.1080/19768354.2014.995225
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- Publication type:
- Article
Etiology of ambiguous genitalia in newborns with XX karyotype: A cross-sectional observational study.
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- Professional Medical Journal, 2021, v. 28, n. 6, p. 799, doi. 10.29309/TPMJ/2021.28.06.5903
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- Publication type:
- Article
Delayed Recognition of Disorders of Sex Development (DSD): AMissed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors.
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- International Journal of Endocrinology, 2012, p. 1, doi. 10.1155/2012/671209
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- Publication type:
- Article
Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.
- Published in:
- International Journal of Endocrinology, 2012, p. 1, doi. 10.1155/2012/504904
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- Publication type:
- Article
Relationships between external sexually dimorphic characteristics and internal gonadal morphology in a sex‐changing fish.
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- Journal of Zoology, 2018, v. 305, n. 2, p. 133, doi. 10.1111/jzo.12546
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- Publication type:
- Article
Reporte de caso: síndrome de Schaaf Yang.
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- Salud Uninorte, 2021, v. 37, n. 2, p. 525, doi. 10.14482/sun.37.2.618.928
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- Publication type:
- Article
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.
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- PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0227411
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- Publication type:
- Article
Trends in evolution of the Rhodniini tribe (Hemiptera, Triatominae): experimental crosses between Psammolestes tertius Lent & Jurberg, 1965 and P. coreodes Bergroth, 1911 and analysis of the reproductive isolating mechanisms.
- Published in:
- Parasites & Vectors, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13071-021-04854-8
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- Publication type:
- Article
Trends in evolution of the Rhodniini tribe (Hemiptera, Triatominae): experimental crosses between Psammolestes tertius Lent & Jurberg, 1965 and P. coreodes Bergroth, 1911 and analysis of the reproductive isolating mechanisms.
- Published in:
- Parasites & Vectors, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13071-021-04854-8
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- Publication type:
- Article
A Case of Non-Seminomatous Germ Cell Tumor Complicated by Tumor Thrombus in an Active Duty Soldier.
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- Military Medicine, 2024, v. 189, n. 7/8, p. e1835, doi. 10.1093/milmed/usae174
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- Publication type:
- Article
Stem Cells and Organs-on-chips: New Promising Technologies for Human Infertility Treatment.
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- Endocrine Reviews, 2022, v. 43, n. 5, p. 878, doi. 10.1210/endrev/bnab047
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- Publication type:
- Article
A meta-analysis of math performance in Turner syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype.
- Published in:
- 2018
- By:
- Publication type:
- journal article